Ontology highlight
ABSTRACT:
SUBMITTER: Alghamdi MA
PROVIDER: S-EPMC7820697 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Alghamdi Malak Ali MA Mulla Jaazeel J Saheb Sharif-Askari Narjes N Guzmán-Vega Francisco J FJ Arold Stefan T ST Abd-Alwahed Mervat M Alharbi Nasser N Kashour Tarek T Halwani Rabih R
Frontiers in immunology 20210108
STING-associated vasculopathy of infantile-onset (SAVI) is one of the newly identified types of interferonopathies. SAVI is caused by heterozygous gain-of-function mutations in the <i>STING1</i>. We herein report for the first time a homozygous variant in the <i>STING1 gene</i> in two siblings that resulted in constitutive activation of <i>STING</i> gene and the SAVI phenotype. Exome sequencing revealed a novel homozygous NM_198282.3: c.841C>T; p.(Arg281Trp) variant in exon 7 of the <i>STING1</i ...[more]